Speaker: Diana Martínez Minguet
20 Gennaio 2026 | 14:15
DEIB, Sala Seminari "A. Alario" (Ed. 21)
Per maggiori informazioni: Silvia Cascianelli | silvia.cascianelli@polimi.it
Sommario
Tuesday, January 20th, 2026 at 2:15 pm a new appointment of Data Science Seminars: Bioinformatics focus will take place in DEIB "Alessandra Alario" Seminar Room (Building 21) organized by the Data Science for Bioinformatics group.The seminar will be held by Diana Martínez Minguet, PhD student in Technologies for Health and Well-Being at Universitat Politècnica de València, on the following subject: "Navigating Heterogeneity in Polygenic Risk Score Models: A Structured Approach to PRS Model Prioritization".
Polygenic Risk Scores (PRSs) estimate the genetic risk for complex diseases, based on the combined impact of many genetic variants. The particular set of genetic variants and their effect sizes associated to a specific disease is determined by a PRS model. These models are derived from GWAS studies using diverse statistical methods to adjust variant weights so that they can be aggregated in a single measure. Currently, there are no best practices or standards for constructing and reporting PRS models, resulting in substantial variability across models, even for the same disease.
This heterogeneity poses a significant challenge for clinical translation, where a single PRS model must often be selected from among many alternatives. Differences in domain terminology and the need to balance multiple, heterogeneous, and often conflicting evaluation criteria complicate direct comparison and prioritization of PRS models, making model selection a demanding and time-consuming task. In this seminar we discuss how Conceptual Modeling, Multi-Criteria Decision Analysis and LLM-based data extraction techniques can allow for an adequate prioritization of PRS Models, aiming to streamline the PRS Model selection process.